Disease: Congenital reticular ichthyosiform erythroderma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607384
rs267607384 		1.000 0.080 17 40818974 frameshift variant GC/- delins
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587776815
rs587776815 		1.000 0.080 17 40819163 splice acceptor variant T/C;G snv
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587776816
rs587776816 		1.000 0.080 17 40819516 splice donor variant C/T snv
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587776817
rs587776817 		1.000 0.080 17 40819085 frameshift variant -/G delins
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58852768
rs58852768 		0.882 0.080 17 40822120 missense variant G/A;C;T snv
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0